Canonical Allele Identifier: CA2574454880

Gene: MAT1A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.80273766del , CM000672.2:g.80273766del	GRCh38
NC_000010.10:g.82033522del , CM000672.1:g.82033522del	GRCh37
NC_000010.9:g.82023502del	NCBI36
NG_008083.1:g.20915del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372213.8:c.*17del MANE Select	ENSP00000361287.3:n.*17del
ENST00000372213.7:c.*17del	ENSP00000361287.3:n.*17del
ENST00000480845.1:n.437del
ENST00000485270.5:n.717del
NM_000429.2:c.*17del	NP_000420.1:n.*17del
XM_005269842.3:c.*17del	XP_005269899.1:n.*17del
XM_005269843.3:c.*17del	XP_005269900.1:n.*17del
NM_000429.3:c.*17del MANE Select	NP_000420.1:n.*17del